A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2609171



Internal ID8326043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18442372..18442806hg38UCSC Ensembl
Outerchr19:18553182..18553616hg19UCSC Ensembl
Outerchr19:18414182..18414616hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38853
hg19853
hg18853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5256886
SamplesNA18507
Known GenesELL
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2609171
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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